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The New England Journal of Medicine Jan 2000Invasive techniques such as amniocentesis and cordocentesis are used for diagnosis and treatment in fetuses at risk for anemia due to maternal red-cell alloimmunization.... (Clinical Trial)
Clinical Trial
Noninvasive diagnosis by Doppler ultrasonography of fetal anemia due to maternal red-cell alloimmunization. Collaborative Group for Doppler Assessment of the Blood Velocity in Anemic Fetuses.
BACKGROUND
Invasive techniques such as amniocentesis and cordocentesis are used for diagnosis and treatment in fetuses at risk for anemia due to maternal red-cell alloimmunization. The purpose of our study was to determine the value of noninvasive measurements of the velocity of blood flow in the fetal middle cerebral artery for the diagnosis of fetal anemia.
METHODS
We measured the hemoglobin concentration in blood obtained by cordocentesis and also the peak velocity of systolic blood flow in the middle cerebral artery in 111 fetuses at risk for anemia due to maternal red-cell alloimmunization. Peak systolic velocity was measured by Doppler velocimetry. To identify the fetuses with anemia, the hemoglobin values of those at risk were compared with the values in 265 normal fetuses.
RESULTS
Fetal hemoglobin concentrations increased with increasing gestational age in the 265 normal fetuses. Among the 111 fetuses at risk for anemia, 41 fetuses did not have anemia; 35 had mild anemia; 4 had moderate anemia; and 31, including 12 with hydrops, had severe anemia. The sensitivity of an increased peak velocity of systolic blood flow in the middle cerebral artery for the prediction of moderate or severe anemia was 100 percent either in the presence or in the absence of hydrops (95 percent confidence interval, 86 to 100 percent for the 23 fetuses without hydrops), with a false positive rate of 12 percent.
CONCLUSIONS
In fetuses without hydrops that are at risk because of maternal red-cell alloimmunization, moderate and severe anemia can be detected noninvasively by Doppler ultrasonography on the basis of an increase in the peak velocity of systolic blood flow in the middle cerebral artery.
Topics: Blood Flow Velocity; Blood Group Incompatibility; Cordocentesis; Erythroblastosis, Fetal; Erythrocytes; Female; Fetal Blood; Gestational Age; Hemoglobins; Humans; Infant, Newborn; Isoantibodies; Middle Cerebral Artery; Pregnancy; Pregnancy Complications, Hematologic; Prospective Studies; ROC Curve; Reference Values; Rh Isoimmunization; Sensitivity and Specificity; Ultrasonography, Doppler, Pulsed; Ultrasonography, Prenatal
PubMed: 10620643
DOI: 10.1056/NEJM200001063420102 -
Biomedical Engineering Letters Feb 2022Prenatal screening is an important issue during pregnancy to ensure fetal and maternal health, as well as preventing the birth of a defective fetus and further problems... (Review)
Review
Prenatal screening is an important issue during pregnancy to ensure fetal and maternal health, as well as preventing the birth of a defective fetus and further problems such as extra costs for the family and society. The methods for the screening have progressed to non-invasive approaches over the recent years. Limitations of common standard screening tests, including invasive sampling, high risk of abortion and a big delay in result preparation have led to the introduction of new rapid and non-invasive approaches for screening. Non-invasive prenatal screening includes a wide range of procedures, including fetal cell-free DNA analysis, proteome, RNAs and other fetal biomarkers in maternal serum. These biomarkers require less invasive sampling than usual methods such as chorionic villus sampling, amniocentesis or cordocentesis. Advanced strategies including the development of nanobiosensors and the use of special nanoparticles have provided optimization and development of NIPS tests, which leads to more accurate, specific and sensitive screening tests, rapid and more reliable results and low cost, as well. This review discusses the specifications and limitations of current non-invasive prenatal screening tests and introduces a novel collection of detection methods reported studies on nanoparticles' aided detection. It can open a new prospect for further studies and effective investigations in prenatal screening field.
PubMed: 35186357
DOI: 10.1007/s13534-021-00208-6 -
Acta Endocrinologica (Bucharest,... 2018Fetal goitre is found in about 1 in 5,000 births, usually in association with maternal Graves' disease, due to transplacental passage of high levels of thyroid...
Fetal goitre is found in about 1 in 5,000 births, usually in association with maternal Graves' disease, due to transplacental passage of high levels of thyroid stimulating antibodies or of anti-thyroid drugs. A goitre can cause complications attributable to its size and to the associated thyroid dysfunction. Fetal ultrasound examination allows easy recognition of the goitre but is not reliable in distinguishing between fetal hypo- and hyperthyroidism. Assessment of the maternal condition and, in some cases, cordocentesis provide adequate diagnosis of the fetal thyroid function. First-line treatment consists of adjusting the dose of maternal anti-thyroid drugs. Delivery is aimed at term. In cases with large goitres, caesarean-section is indicated.
PubMed: 31149240
DOI: 10.4183/aeb.2018.85 -
Cureus Jul 2021We discuss the current indications, technical variation and procedure-related complications of percutaneous umbilical cord blood sampling (PUBS). The term PUBS is... (Review)
Review
We discuss the current indications, technical variation and procedure-related complications of percutaneous umbilical cord blood sampling (PUBS). The term PUBS is commonly used in the United States. Cordocentesis and funipuncture are equivalent terms. A needle guided by ultrasound is introduced into a blood vessel (usually the vein) of the umbilical cord to collect fetal specimen in PUBS. We conducted a literature search in PubMed indexed journals and analyzed all related articles on PUBS and cordocentesis. We chose this subject because it is a relatively new but convenient method that has both diagnostic and therapeutic value in fetal medicine. At present the only procedure that provides direct access to fetal circulation is PUBS. The most common clinical indication for PUBS is suspected fetal anemia. Other major indications for PUBS are the diagnosis of congenital infections, cytogenetic analysis, metabolic disorders, fetal growth restriction and hematologic disorders. Therapeutic applications of cordocentesis or puncture of the umbilical cord are in utero transfusions for rhesus alloimmunization and medication administration. PUBS also provides a direct assessment of fetal thyroid function diagnosing fetal thyroid disorders and helps administer therapy in utero. Literature demonstrates a low incidence of complications associated with percutaneous umbilical blood sampling. For PUBS, the true complication rate related to the method of sampling remains unclear. A few cases reported complications conducted PUBS for therapeutic purposes which naturally has a higher accident rate compared to diagnostic purposes. Although life-threatening complications are rare, there are potential risks that include bleeding from the puncture site, fetal bradycardia, vertical transmission of maternal infection. Therefore, PUBS should be performed at perinatal care centers by experienced physicians and the best time is between 17 to 40 weeks of gestation. There are three methods used to approach the umbilical cord that includes direct, indirect and free puncture. Anteriorly placed placenta allows an easier approach to the umbilical cord. The danger of abruption of placenta must be kept in mind while using this technique. The number of punctures should be limited to a maximum of 3 to reduce complications. According to a case series report, the mean time required for the procedure was 4 minutes with a fall in duration seen with increased experience. In conclusion, percutaneous blood sampling allows direct access to fetal circulation thus opening up new areas of prenatal diagnosis and therapy. PUBS is now a well-codified procedure. It is clear from our literature review that risks directly related to the technique are small. The indication of the procedure must be carefully chosen as the risk of complications of umbilical cord puncture is directly related to the severity of the condition. Complications such as bleeding and hematoma formation are related to duration and number of punctures which are operator-dependent. Thus, only highly trained personnel should conduct the procedure. The list of indications is extensive and growing. Nevertheless, this technique shows potential to open up new realms in the area of fetal medicine.
PubMed: 34422463
DOI: 10.7759/cureus.16423 -
Ultrasound in Obstetrics & Gynecology :... Nov 2020To identify procedural risk factors associated with fetal loss following cordocentesis and to determine the rate of cordocentesis-related fetal loss associated with the...
OBJECTIVES
To identify procedural risk factors associated with fetal loss following cordocentesis and to determine the rate of cordocentesis-related fetal loss associated with the current cordocentesis protocol used in our institution.
METHODS
This was a retrospective cohort study of pregnancies that underwent midpregnancy cordocentesis in a single center (a tertiary hospital, teaching school), between 1992 and 2018, based on data retrieved from our prospective database. All consecutive cases were validated to retrieve those meeting the eligibility criteria, which included: singleton pregnancy without underlying maternal disease, normal fetus (no structural or chromosomal abnormality or severe disorder), gestational age between 16 and 24 weeks at the time of the procedure and availability of pregnancy outcome. Cases that resulted in termination of pregnancy were excluded. We assessed the effect of prior cordocentesis model training on the fetal-loss rate and procedure-related complications, and evaluated potential risk factors of fetal loss secondary to cordocentesis, including procedure difficulty, placenta penetration, prolonged bleeding, fetal bradycardia, puncture site and early gestational age at procedure. Pregnancy outcomes were compared between the study group and a control group of women, who did not undergo cordocentesis, selected randomly at a 1:1 ratio from our obstetric database.
RESULTS
A total of 10 343 procedures were performed during the study period, of which 6650 met the eligibility criteria and were included in the analysis. The fetal-loss rate in the first 60 procedures (early practice) of six operators (n = 360 procedures), who did not have prior model training, was significantly higher than that during the early practice of 18 operators (n = 1080 procedures) with prior model training (6.9% vs 1.6%; P < 0.001); whereas the fetal-loss rate in the next 60 procedures of practice was comparable between the two groups. After excluding the first 360 procedures of the groups without prior model training, the overall fetal-loss rate in pregnancies that underwent cordocentesis was significantly higher than that in the control group (1.6% vs 1.0%; P < 0.001). Considering the fetal-loss rate in the normal controls as background loss, the incremental cordocentesis-associated fetal-loss rate was 0.6%. Penetration of the placenta (odds ratio (OR), 2.65 (95% CI, 1.71-4.10)), prolonged bleeding from the puncture site (OR, 10.85 (95% CI, 5.27-22.36)) and presence of fetal bradycardia (OR, 3.32 (95% CI, 1.83-6.04)) during cordocentesis were independent risk factors associated with fetal loss.
CONCLUSIONS
Cordocentesis model training markedly reduces fetal loss during the early learning curve of practice. Thus, cordocentesis practice without prior model training should not be acceptable. Significant procedural risk factors for fetal loss secondary to cordocentesis are placental penetration, prolonged bleeding and fetal bradycardia. Cordocentesis-related fetal loss may be only 0.6%, much lower than the rate reported previously. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Abortion, Spontaneous; Adult; Case-Control Studies; Cordocentesis; Databases, Factual; Female; Gestational Age; Humans; Odds Ratio; Placenta; Pregnancy; Pregnancy Outcome; Prospective Studies; Retrospective Studies; Risk Factors
PubMed: 31975486
DOI: 10.1002/uog.21980 -
Pathogens (Basel, Switzerland) Nov 2022Perinatal Hepatitis C Virus (HCV) transmission occurs in 4-7% of the cases with detectable viremia at delivery. HCV testing in pregnancy is recommended. The fetal... (Review)
Review
BACKGROUND
Perinatal Hepatitis C Virus (HCV) transmission occurs in 4-7% of the cases with detectable viremia at delivery. HCV testing in pregnancy is recommended. The fetal infection was previously described as asymptomatic although there are two cases, including this one, to report the presence of isolated fetal ascites in HCV infected fetuses.
CASE REPORT
A 42-year-old patient, 3G, 3P, presented in the Emergency Room for painful uterine contraction. The third-trimester ultrasound examination noted severe fetal ascites, accompanied by hyperechoic bowels and polyhydramnios. The diagnosis required a detailed ultrasound exam, invasive testing (amniocentesis, cordocentesis, and fetal paracentesis), and a complete workup. The mother tested positive for HCV antibodies, and the fetal cord blood tested positive for HCV RNA. The ascites resolved after paracentesis, and the gastrointestinal and respiratory functions markedly improved. The fetus was delivered at term in good condition.
CONCLUSIONS
The etiology of isolated fetal ascites is broad. This case may indicate that intrauterine HCV transmission is a potential cause of isolated fetal ascites in the absence of other explanation, and isolated fetal ascites can be the only sign revealed on a routine examination. We suspected, having no other detected cause for ascites, the intrauterine transmission of HCV. Invasive procedures, such as paracentesis, are required for abdominal decompression to manage isolated fetal ascites, as it may be a saving procedure. A genetic investigation is needed, and a good neonatal outcome is expected in the absence of fetal structural or genetic abnormalities, as in our case.
PubMed: 36422587
DOI: 10.3390/pathogens11111335 -
World Journal of Clinical Cases Aug 2021Fetal hydrops is a serious condition difficult to manage, often with a poor prognosis, and it is characterized by the collection of fluid in the extravascular...
BACKGROUND
Fetal hydrops is a serious condition difficult to manage, often with a poor prognosis, and it is characterized by the collection of fluid in the extravascular compartments. Before 1968, the most frequent cause was the maternal-fetal Rh incompatibility. Today, 90% of the cases are non-immune hydrops fetalis. Multiple fetal anatomic and functional disorders can cause non-immune hydrops fetalis and the pathogenesis is incompletely understood. Etiology varies from viral infections to heart disease, chromosomal abnormalities, hematological and autoimmune causes.
CASE SUMMARY
A 38-year-old pregnant woman has neck lymphoadenomegaly, fever, cough, tonsillar plaques at 14 wk of amenorrhea and a rash with widespread itching. At 27.5 wk a fetal ultrasound shows signs of severe anemia and hydrops. Cordocentesis is performed with confirmation of severe fetal anemia and subsequent fetal transfusion. The karyotype is 46, XX, array-comparative genome hybridization (CGH) negative, and infectious tests are not conclusive. In the following days there is a progressive improvement of the indirect signs of fetal anemia. At 33.6 wk, for relapse of severe fetal anemia, further fetal transfusions are necessary and an urgent cesarean section is performed. On the day 12 of life, for the detection of anemia, the newborn is subjected to transfusion of concentrated red blood cells and begins treatment with erythropoietin. Later there is a normalization of blood chemistry values and the baby does not need new transfusions. A 29-year-old pregnant woman, with Sjogren's syndrome and positive Anti-Ro/SSA antibodies, is subjected to serial fetal ecocardio for branch block. At 26.5 wk there is a finding of fetal ascites. Infectious disease tests on amniotic fluid are negative as well as quantitative fluorescent polymerase chain reaction, Array CGH. At cordocentesis Hb is 1.3 mmol/L, consequently fetal transfusion is performed. Also in this case, due to continuous episodes of relapse of fetal anemia with consequent transfusions, at 29.4 wk a cesarean section is performed. On day 9 of life, a treatment with erythropoietin is started in the newborn, but the baby needs three blood transfusions. The search for autoantibodies in the baby found SS-A Ro60 positive, SSA-Ro52 positive and SS-B negative. The hemoglobin values normalized after the disappearance of maternal autoantibodies.
CONCLUSION
An attempt to determine the etiology of hydrops should be made at the time of diagnosis because the goal is to treat underlying cause, whenever possible. Even if the infectious examinations are not conclusive, but the pregnancy history is strongly suggestive of infection as in the first case, the infectious etiology must not be excluded. In the second case, instead, transplacental passage of maternal autoantibodies caused hydrops fetalis and severe anemia. Finally, obstetric management must be aimed at fetal support up to an optimal timing for delivery by evaluating risks and benefits to increase the chances of survival without sequelae.
PubMed: 34435022
DOI: 10.12998/wjcc.v9.i22.6531 -
BMC Pregnancy and Childbirth Jan 2023Dandy-Walker syndrome (DWS) is a rare congenital malformation of the central nervous system (CNS), characterized by underdevelopment or dysplasia of the cerebellar...
BACKGROUND
Dandy-Walker syndrome (DWS) is a rare congenital malformation of the central nervous system (CNS), characterized by underdevelopment or dysplasia of the cerebellar vermis, expansion of the fourth ventricle and posterior fossa cistern. The incidence is aboutapproximately 1/25000-1/35000. At present, the etiology and pathogenesis of DWS are not completely clear. It is mostly considered to be a multifactorial genetic disease that is related to both genetic factors and environmental factors. There is no large sample size analysis of the chromosomal profile of DWS up to now. This study aims to provide clinical reference for prenatal diagnosis via summarizing the clinical features and pregnancy outcomes of Dandy-Walker syndrome.
METHODS
A total of 76 cases of foetal Dandy-Walker syndrome out of 19,506 pregnant women underwent cordocentesis or amniocentesis for genetic detection. Rapid prenatal karyotyping, single nucleotide polymorphism array (SNP-array) and BACs-on-Beads™ (BoBs) were performed for prenatal genetic diagnosis. The results of ultrasonography, genetic analysis and pregnancy outcome were recorded.
RESULTS
Of the 76 cases, 19 were isolated DWS, while 57 cases were accompanied by other ultrasound-visible abnormalities. Ultrasound abnormalities of the CNS were most frequently observed, accompanied by DWS. Twenty-five out of 76 cases had chromosomal abnormalities, and the rate of chromosomal abnormalities increased in pregnant women of advanced maternal age or in combination with other ultrasound abnormalities. Of the 19 cases in the isolated DWS group, nine pregnant women chose to terminate the pregnancy, while seven cases continued the pregnancy and all infants were normal. Among the 57 pregnant women with pathological ultrasound manifestations other than foetal DWS, 44 chose to terminate the pregnancy, while 12 cases continued the pregnancy. Further follow-up revealed one newborn with postnatal neurodevelopmental delay. A female term neonate presented with very severe sensorineural deafness, and an infant died 7 days after birth with abnormal development of multiple organs.
CONCLUSIONS
Pregnant women with DWS in foetal ultrasonic examination should be offered a careful and comprehensive foetal ultrasound scan and further prenatal genetic testing including karyotype analysis and SNP-array. The prognosis of the foetus without chromosomal aberration is good in isolated DWS pregnancies but poor in nonisolated DWS pregnancies.
Topics: Female; Humans; Infant; Infant, Newborn; Pregnancy; Chromosome Aberrations; Dandy-Walker Syndrome; Nervous System Malformations; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 36653756
DOI: 10.1186/s12884-023-05367-1